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Orphanet Journal of Rare Diseases|May 16, 2016
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityValerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.American Journal of Human Genetics|February 18, 2014
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhoodClara D van Karnebeek, William S Sly, Colin J Ross, et al.Frontiers in Neurology|June 6, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset EpilepsyMichelle Demos, Ilaria Guella, Conrado DeGuzman, et al.BMC Genomics|November 18, 2009
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridizationJm Friedman, Shelin Adam, Laura Arbour, et al.American Journal of Human Genetics|August 16, 2006
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardationJ M Friedman, Agnes Baross, Allen D Delaney, et al.The New England Journal of Medicine|June 9, 2016
Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.Pageof 4